Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.100 None 0 1
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 0 0
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		Q9H334 forkhead box P1 317 0.460 0.808 1.00 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		O60733 phospholipase A2 group VI Enzyme modulator 350 0.476 0.846 2.5E-10 0.100 None 0 1
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		Q9Y617 phosphoserine aminotransferase 1 285 0.478 0.846 1.1E-08 0.100 None 0 0
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1 		Q9Y6X0 SET binding protein 1 257 0.503 0.808 1.00 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 0 0
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A 		Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 212 0.522 0.808 1.00 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A 		Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 154 0.541 0.769 0.97 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		P50542 peroxisomal biogenesis factor 5 Transporter 174 0.561 0.731 5.6E-05 0.100 None 0 0
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 127 0.566 0.692 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5828
Gene Symbol: PEX2
PEX2 		P28328 peroxisomal biogenesis factor 2 152 0.582 0.654 2.6E-04 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 2
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		O60683 peroxisomal biogenesis factor 10 141 0.584 0.654 5.4E-04 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		Q7Z412 peroxisomal biogenesis factor 26 132 0.584 0.615 0.93 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 151 0.584 0.731 0.92 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		Q9C0K1 solute carrier family 39 member 8 Transporter 138 0.584 0.769 0.67 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19 		P40855 peroxisomal biogenesis factor 19 Storage 134 0.585 0.731 3.2E-04 0.100 None 0 0
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 104 0.588 0.577 0.98 0.100 None 0 1